Somewhat similar though not identical observations have been made of patients with mutations in other UFM1 pathway components including UFM1, UBA5, and UFC1, which cause encephalopathy in patient groups with overlapping clinical manifestations that include microcephaly (abnormally small cranial development), seizures, progressive emaciation, weakening and rigidity of muscle tissues [47]. The gene discussed is UFM1; the disease is Encephalopathy.